newborn screening

I remember when the nurse entered my hospital room and whisked my newborn daughter away for a routine blood test. Exhausted and ecstatic following Kristy’s birth, I didn’t give the test a second thought. She was, after all, the picture of health. A week later, however, that moment became significant in a way I could never have imagined. My child was one of thousands of U.S. infants born each year with disorders diagnosed during newborn screening. In her case, the diagnosis was congenital hypothyroidism, a disorder in which her body doesn’t produce enough thyroid hormone. She started treatment the next day (as in most of these disorders, quick treatment is crucial) and is now a normal teenager, but if we had lived in a different state back then, this may not have been the case.

Newborn screening technology> Today, up to 50 genetic, metabolic, congenital and infectious disorders can be detected from just one blood sample taken within hours of a baby’s birth. If treatment exists and is administered early, an afflicted baby can be saved from such potentially severe outcomes as mental retardation, physical deformities or even death. But depending on the state where a woman lives, her newborn might be screened for as few as four disorders at birth. Some states have purchased the advanced screening technology (called tandem mass spectrometry, which costs about $300,000 per machine); others have not. Any pregnant woman can make sure that her baby’s blood sample is tested for a full range of disorders by talking with her OB-GYN and pediatrician before the birth and arranging for a sample to be taken and sent to a private lab (see “Take Charge of Your Baby’s Testing” on pg. 76). Yet many parents and politicians question why expanded screening is not routinely made available for all babies. “It doesn’t make sense that a child can be kept alive in one state and a child in another state with the same disorder dies,” says Wendy Nawn, vice president of Save Babies Through Screening (www.savebabies.org). Screening: the future> Legislation being introduced in Congress by Democratic Sen. Chris Dodd of Connecticut seeks to resolve the disparities among state screening programs through additional education, training and outreach. The legislation, if enacted, would also provide federal support for follow-up care for children born with detected diseases. “Newborn screening is an available tool in efforts to treat children’s health problems,” Dodd says, “and, as such, we need to ensure that every family and every health provider across America has access to information about this critical resource.” In a study reported in the February 2003 issue of Pediatrics, researchers make several recommendations for how doctors and state health departments can work together more efficiently when reporting results to parents. “These improvements will ultimately benefit the 4 million infants screened each year and assist states in developing the infrastructure that will be needed as expanded newborn screening is ultimately adopted,” the study says.

When it works, it really works> The passion that surrounds this subject is understandable: When a treatable disorder is detected shortly after a baby is born, the child has a greater chance of leading a normal life. “Newborn screening is one of those quietly efficient prevention programs that works,” says Bradford Therrell, Ph.D., director of the National Newborn Screening and Genetics Resource Center in Austin, Texas. “Most parents don’t even know the tests are being done,” Therrell adds. One such example is testing for PKU (phenylketonuria), a potentially devastating metabolic disease that can cause brain damage if not treated. All states test newborns for this disorder; the treatment, which is a simple dietary adjustment, has helped thousands of babies live full, normal lives since screening began in 1965. Unfortunately, not all detectable disorders are treatable. In fact, some public-health experts debate the wisdom of testing for a disorder for which nothing can be done, while others believe that it is best for parents to know what a baby’s future holds. “Making the diagnosis can help a family adjust their expectations for the baby,” says Nancy Green, M.D., medical director for the March of Dimes, which supports expanded screening.

Educate yourself> Because the tests being offered in individual states are changing so quickly, some doctors may not have the latest information. Before you have your baby, find out all you can about screening. Here’s how:

Ask your obstetrician for information about your state’s newborn screening program. Then call your state health department or visit its Web site to find out what tests are offered routinely and what tests you have to request. For example, some states have a basic screening program for all newborns but also operate a pilot program or optional screening program—which parents must request—covering additional disorders.

To see which disorders your state tests for, visit the National Newborn Screening and Genetics Center Web site at http://genes-r-us.uthscsa.edu. Click on “NBS Disorders Screened—Listed by State,” then your state.

Contact a private lab if your state does not offer the complete range of screening tests (see “Take Charge of Your Baby’s Testing,” below). The lab will provide you with an information packet complete with filter paper, which your pediatrician will use to collect a blood sample for screening. The specimen should be collected 24 to 48 hours after birth and immediately mailed to the lab for analysis. Results are reported only to your doctor.

Parents who opt for private screening will need to stay in touch with their pediatrician regarding the results, Therrell notes. Furthermore, neither the doctor nor state health department officials may know what to do if the baby has a rare condition. In such cases, parents should research the condition and aggressively seek out a specialist with knowledge about the disorder. Keep in mind that after testing, the overwhelming majority of parents will receive the happy news that their babies are fine. Having that reassurance is well worth the time invested in researching the tests and the $25 to $60 spent on them.